Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals.
As assay for the detection in leukocytes of homozygous and heterozygous carriers of Sanfilippo syndrome type C is described. In one family with two patients suffering from Sanfilippo C syndrome, the affected individuals had no residual activity to acetyl-CoA: alpha-glucosaminide N-acetyltransferase. The determination of the acetyl-CoA: alpha-glucosaminide N-acetyltransferase/ beta-glucuronidase ratio allows the discrimination between obligate heterozygotes and normal individuals and may be used for carrier detection.
D000105:Acetyl Coenzyme A / Q000235:genetics*; D000123:Acetyltransferases / Q000235:genetics*; D005944:Glucosamine / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D009083:Mucopolysaccharidoses / Q000201:enzymology*; D009084:Mucopolysaccharidosis III / Q000201:enzymology*
D000105:Acetyl Coenzyme A; D000123:Acetyltransferases; C020580:glucosamine acetyltransferase; D005944:Glucosamine